Canonical Allele Identifier: CA136869055
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs11547353
gnomAD v4: 6-31271726-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271726C>G , CM000668.2:g.31271726C>G GRCh38
NC_000006.11:g.31239503C>G , CM000668.1:g.31239503C>G GRCh37
NC_000006.10:g.31347482C>G NCBI36
NG_029422.2:g.5406G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.216G>C MANE Select ENSP00000365402.5:p.Arg72=
ENST00000376228.9:c.216G>C ENSP00000365402.5:p.Arg72=
ENST00000376237.8:c.216G>C ENSP00000365412.4:p.Arg72=
ENST00000383329.7:c.216G>C ENSP00000372819.3:p.Arg72=
ENST00000415537.1:c.214G>C
ENST00000484378.1:n.235G>C
ENST00000487245.5:n.325G>C
ENST00000495835.1:n.405G>C
NM_002117.5:c.216G>C NP_002108.4:p.Arg72=
NM_002117.6:c.216G>C MANE Select NP_002108.4:p.Arg72=